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Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 a disorder known as trisomy 13 or trisomy D or T13  , or because each cell contains an extra partial copy of the chromosome or because there are two different lines of cells - one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome- mosaic Patau syndrome.
Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis the mosaic form is caused by nondisjunction during mitosis. Like all nondisjunction conditions such as Down syndrome and Edwards syndrome , the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:.
Patau syndrome is the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. A small percentage of cases occur when only some of the body's cells have an extra copy; such cases are called mosaic Patau.
Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome translocated before or at conception in a Robertsonian translocation. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome.
Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells eggs and sperm. An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the chromosome.
If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each of the body's cells. Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development.
Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome.
This rearrangement is called a balanced translocation because there is no extra material from chromosome Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition. The most common characteristics of this syndrome are problems such as late development, mental disability, multiple malformations, cardiomyopathy, and kidney abnormalities.
The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers. Physical development for children affected by Patau Syndrome occurs more slowly than children without Patau syndrome. However, children affected by Patau Syndrome should still undergo regular physical activity, even though muscle development may occur more slowly.
Diagnosis is usually based on clinical findings, although fetal chromosome testing will show trisomy While many of the physical findings are similar to Edwards syndrome there are a few unique traits, such as polydactyly. However, unlike Edwards syndrome and Down syndrome , the quad screen does not provide a reliable means of screening for this disorder. This is due to the variability of the results seen in fetuses with Patau.
Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate.
Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives. Children with the mosaic variation are usually affected to a lesser extent. One and ten year survival was Trisomy 13 was first observed by Thomas Bartholin in ,  but the chromosomal nature of the disease was ascertained by Dr.
Klaus Patau in From Wikipedia, the free encyclopedia. Chromosomal disorder in which there are three copies of chromosome Diseases Center-Patau Syndrome. Adviware Pty Ltd. Retrieved Bruce Ostler Diseases of the eye and skin: a color atlas. Retrieved 13 April Retrieved 3 July Retrieved 3 December Archived from the original on ICD - 10 : Q Chromosome abnormalities Q90—Q99 , Turner syndrome 45,X.
Trisomy 13, trisomy D, T13 . A 16 year old female with full trisomy 13 and consistent facial features. Wikimedia Commons has media related to Patau syndrome. Monosomy Turner syndrome 45,X.
However, few infants live more than a few days. The estimated incidence is approximately , There may be an increased incidence with advanced maternal age. Described features are protean and include. Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:.
Trisomy 13 , also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes microphthalmia , extra fingers or toes, an opening in the lip a cleft lip with or without an opening in the roof of the mouth a cleft palate , and weak muscle tone hypotonia. Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Trisomy 13 occurs in about 1 in 16, newborns. Although women of any age can have a child with trisomy 13 , the chance of having a child with this condition increases as a woman gets older.